Mutagenetix > Incidental Mutation

Incidental Mutation 'R0046:Ccdc39'

43689

Institutional Source

Beutler Lab

Gene Symbol

Ccdc39

Ensembl Gene

ENSMUSG00000027676

Gene Name

coiled-coil domain containing 39

Synonyms

b2b2025.1Clo, b2b1735Clo, 4921507O14Rik, D3Ertd789e, b2b1304Clo

MMRRC Submission

038340-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.851) question?

Stock #

R0046 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

33812362-33844310 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 33844152 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 15 (F15L)

Ref Sequence

ENSEMBL: ENSMUSP00000029222 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029222]

AlphaFold

Q9D5Y1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000029222
AA Change: F15L

PolyPhen 2 Score 0.525 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000029222
Gene: ENSMUSG00000027676
AA Change: F15L

Domain	Start	End	E-Value	Type
coiled coil region	16	67	N/A	INTRINSIC
coiled coil region	164	198	N/A	INTRINSIC
coiled coil region	232	339	N/A	INTRINSIC
low complexity region	381	393	N/A	INTRINSIC
internal_repeat_1	569	603	1.19e-5	PROSPERO
internal_repeat_1	598	635	1.19e-5	PROSPERO
coiled coil region	664	704	N/A	INTRINSIC
coiled coil region	726	766	N/A	INTRINSIC
low complexity region	873	889	N/A	INTRINSIC
low complexity region	915	928	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000197230

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000200277

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000200300

Meta Mutation Damage Score

0.1364

Coding Region Coverage

1x: 99.6%
3x: 98.8%
10x: 96.7%
20x: 93.3%

Validation Efficiency

100% (83/83)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is involved in the motility of cilia and flagella. The encoded protein is essential for the assembly of dynein regulatory and inner dynein arm complexes, which regulate ciliary beat. Defects in this gene are a cause of primary ciliary dyskinesia type 14 (CILD14). [provided by RefSeq, Jul 2011]
PHENOTYPE: ENU induced mutations result in situs inversus totalis with dextrocardia, double outlet right ventricle and atrial septal defects, renal anomalies including cysts and hydronephrosis, and immotile tracheal airway cilia. One ENU induced mutation causes ependymal motile cilia defects and hydrocephalus. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actl7a	A	T	4: 56,743,877	K135*	probably null	Het
Adamts16	A	G	13: 70,763,460	S871P	probably benign	Het
Adcy10	A	T	1: 165,539,834	I558F	probably damaging	Het
Adsl	T	G	15: 80,962,788		probably null	Het
Aldob	T	C	4: 49,543,842	I47V	possibly damaging	Het
Alkbh8	A	G	9: 3,343,247	E46G	probably damaging	Het
Ankrd33b	G	A	15: 31,367,337	P19L	probably damaging	Het
Apoa5	T	C	9: 46,269,998	L124S	probably damaging	Het
Atp1a4	A	T	1: 172,240,097	L533Q	probably benign	Het
Atp7b	T	C	8: 22,059,995	T9A	probably benign	Het
Auh	G	A	13: 52,929,385		probably benign	Het
B3gnt3	T	C	8: 71,692,923	Y267C	probably damaging	Het
BC051142	T	C	17: 34,460,121		probably null	Het
Card11	T	C	5: 140,908,524	T117A	possibly damaging	Het
Chtf18	C	T	17: 25,723,460	R468Q	probably benign	Het
Cntnap5c	T	G	17: 58,359,300	D1108E	probably benign	Het
Col14a1	G	A	15: 55,408,963		probably benign	Het
Col6a6	C	T	9: 105,748,848		probably benign	Het
Col9a3	G	A	2: 180,609,487	A317T	possibly damaging	Het
Cpt1c	A	T	7: 44,959,832		probably benign	Het
Cpt2	A	G	4: 107,904,362		probably null	Het
Crebrf	T	A	17: 26,763,334	L565M	probably damaging	Het
Cyp2d41-ps	T	A	15: 82,782,035		noncoding transcript	Het
Dhx9	C	T	1: 153,472,707	V291M	probably benign	Het
Dmxl1	T	A	18: 49,878,082	V1102E	probably benign	Het
Dnah7a	A	T	1: 53,456,874		probably null	Het
Dock4	G	A	12: 40,737,360		probably benign	Het
Dpp3	G	T	19: 4,914,643	N545K	probably damaging	Het
Elmo2	T	A	2: 165,298,726	N275I	probably damaging	Het
Farp1	A	G	14: 121,255,513	K509R	probably benign	Het
Fat3	T	C	9: 15,965,979	Y3446C	possibly damaging	Het
Fgd2	T	A	17: 29,374,990		probably benign	Het
Flg	T	A	3: 93,277,721		probably benign	Het
Gas2l2	A	T	11: 83,421,910	W859R	probably damaging	Het
Gatm	T	C	2: 122,600,744	D254G	probably damaging	Het
Gjd4	T	A	18: 9,280,998	I27F	probably damaging	Het
Gsdmc2	C	A	15: 63,827,755		probably benign	Het
Haus5	C	T	7: 30,654,180	V591I	probably benign	Het
Kcnab3	G	A	11: 69,330,227		probably null	Het
Khdrbs2	A	G	1: 32,619,202	D281G	possibly damaging	Het
Krt86	A	T	15: 101,477,402	M393L	probably benign	Het
Limk1	T	C	5: 134,672,761	Y96C	probably damaging	Het
Lrp2bp	T	A	8: 46,013,155	Y100*	probably null	Het
Mamstr	T	G	7: 45,641,770		probably benign	Het
Man1a	A	G	10: 53,919,187	Y657H	probably damaging	Het
Marf1	G	A	16: 14,111,727	P1672S	possibly damaging	Het
Mboat7	T	C	7: 3,683,818	Y341C	probably damaging	Het
Nhsl1	A	T	10: 18,525,669	N881I	probably damaging	Het
Nox3	T	C	17: 3,682,961	Y225C	probably benign	Het
Nrp1	C	T	8: 128,500,608		probably benign	Het
Olfr1080	A	G	2: 86,553,632	F164S	probably damaging	Het
Olfr1214	C	T	2: 88,987,349	M284I	probably benign	Het
Olfr1260	C	T	2: 89,978,507	T243I	probably damaging	Het
Olfr1458	G	A	19: 13,103,278	R3C	possibly damaging	Het
Olfr742	T	A	14: 50,516,139	*312K	probably null	Het
Pcdhb13	A	T	18: 37,444,257	M563L	probably benign	Het
Pclo	C	T	5: 14,540,479	T931M	unknown	Het
Peli2	C	T	14: 48,121,202	P16S	possibly damaging	Het
Pfas	G	T	11: 68,990,467	R1025S	probably benign	Het
Pik3c2a	A	T	7: 116,354,072	I1196N	probably damaging	Het
Pmfbp1	A	T	8: 109,535,985		probably benign	Het
Prg4	T	C	1: 150,456,086	T279A	possibly damaging	Het
Psma1	A	T	7: 114,267,205		probably benign	Het
Rab11fip1	A	G	8: 27,153,121	L550P	probably damaging	Het
Rgs12	T	A	5: 34,965,320	I149N	probably damaging	Het
Rmnd5a	T	C	6: 71,399,231	H195R	probably damaging	Het
Rnf17	T	C	14: 56,471,373	L750P	probably damaging	Het
Rtcb	T	C	10: 85,957,656	N18D	probably benign	Het
Seh1l	T	C	18: 67,792,016		probably null	Het
Sis	T	G	3: 72,932,094	N813T	probably benign	Het
Sptbn2	T	C	19: 4,745,377		probably benign	Het
Stag3	C	T	5: 138,283,023		probably benign	Het
Taar2	G	A	10: 23,941,495	R311H	probably benign	Het
Taok3	C	T	5: 117,272,229	Q829*	probably null	Het
Tnfrsf21	C	T	17: 43,038,213	H239Y	probably benign	Het
Ttn	A	G	2: 76,951,542		probably benign	Het
Unc79	A	G	12: 103,125,681	E1756G	probably damaging	Het
Usp35	A	T	7: 97,313,597		probably null	Het
Vmn2r111	A	G	17: 22,548,009	F836L	probably benign	Het
Vmn2r77	A	G	7: 86,801,938	D344G	possibly damaging	Het
Zbtb40	A	G	4: 136,987,278	C1067R	probably damaging	Het

Other mutations in Ccdc39

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02093:Ccdc39	APN	3	33832568	missense	probably benign	0.16
IGL02321:Ccdc39	APN	3	33816958	unclassified	probably benign
IGL02426:Ccdc39	APN	3	33825398	missense	possibly damaging	0.85
IGL02930:Ccdc39	APN	3	33825494	missense	probably damaging	1.00
IGL03027:Ccdc39	APN	3	33830118	missense	probably benign	0.06
IGL03347:Ccdc39	APN	3	33837843	missense	probably damaging	1.00
R0046:Ccdc39	UTSW	3	33844152	missense	possibly damaging	0.52
R0601:Ccdc39	UTSW	3	33819839	missense	probably damaging	0.99
R0975:Ccdc39	UTSW	3	33844125	missense	probably damaging	1.00
R1075:Ccdc39	UTSW	3	33826480	missense	probably damaging	0.99
R1224:Ccdc39	UTSW	3	33826480	missense	probably damaging	0.99
R1251:Ccdc39	UTSW	3	33826480	missense	probably damaging	0.99
R1252:Ccdc39	UTSW	3	33826480	missense	probably damaging	0.99
R1254:Ccdc39	UTSW	3	33826480	missense	probably damaging	0.99
R1255:Ccdc39	UTSW	3	33826480	missense	probably damaging	0.99
R1331:Ccdc39	UTSW	3	33815485	missense	probably benign	0.34
R1370:Ccdc39	UTSW	3	33826480	missense	probably damaging	0.99
R1385:Ccdc39	UTSW	3	33821412	missense	probably damaging	0.99
R1416:Ccdc39	UTSW	3	33826480	missense	probably damaging	0.99
R1491:Ccdc39	UTSW	3	33826480	missense	probably damaging	0.99
R1513:Ccdc39	UTSW	3	33839145	missense	possibly damaging	0.60
R1769:Ccdc39	UTSW	3	33826480	missense	probably damaging	0.99
R1965:Ccdc39	UTSW	3	33826480	missense	probably damaging	0.99
R1966:Ccdc39	UTSW	3	33826480	missense	probably damaging	0.99
R2061:Ccdc39	UTSW	3	33819896	missense	probably damaging	0.97
R2109:Ccdc39	UTSW	3	33815501	missense	probably damaging	0.97
R2183:Ccdc39	UTSW	3	33821432	missense	possibly damaging	0.46
R2207:Ccdc39	UTSW	3	33836733	missense	probably damaging	0.97
R2208:Ccdc39	UTSW	3	33841178	missense	probably damaging	0.99
R2267:Ccdc39	UTSW	3	33815484	missense	probably damaging	0.99
R3012:Ccdc39	UTSW	3	33814668	missense	probably damaging	1.00
R3013:Ccdc39	UTSW	3	33814668	missense	probably damaging	1.00
R3120:Ccdc39	UTSW	3	33837838	missense	probably damaging	1.00
R3415:Ccdc39	UTSW	3	33814497	missense	probably benign	0.02
R3802:Ccdc39	UTSW	3	33819895	missense	probably damaging	1.00
R3804:Ccdc39	UTSW	3	33819895	missense	probably damaging	1.00
R4107:Ccdc39	UTSW	3	33825479	missense	probably damaging	1.00
R4334:Ccdc39	UTSW	3	33837882	missense	probably damaging	1.00
R4367:Ccdc39	UTSW	3	33826522	missense	probably benign	0.01
R4462:Ccdc39	UTSW	3	33814668	missense	probably damaging	1.00
R4653:Ccdc39	UTSW	3	33819806	critical splice donor site	probably null
R4723:Ccdc39	UTSW	3	33813078	missense	possibly damaging	0.66
R4908:Ccdc39	UTSW	3	33839093	splice site	probably null
R5236:Ccdc39	UTSW	3	33830102	missense	probably damaging	1.00
R5646:Ccdc39	UTSW	3	33825550	missense	probably damaging	1.00
R5705:Ccdc39	UTSW	3	33816937	missense	probably damaging	1.00
R5739:Ccdc39	UTSW	3	33826561	missense	possibly damaging	0.95
R6130:Ccdc39	UTSW	3	33841192	splice site	probably null
R6375:Ccdc39	UTSW	3	33814367	missense	probably benign	0.38
R6548:Ccdc39	UTSW	3	33837959	missense	probably benign	0.03
R6709:Ccdc39	UTSW	3	33830093	missense	possibly damaging	0.52
R6858:Ccdc39	UTSW	3	33819868	missense	probably damaging	1.00
R7183:Ccdc39	UTSW	3	33814471	missense	probably damaging	1.00
R7269:Ccdc39	UTSW	3	33830105	missense	probably benign	0.00
R7348:Ccdc39	UTSW	3	33832676	missense	possibly damaging	0.55
R7645:Ccdc39	UTSW	3	33825169	splice site	probably null
R7695:Ccdc39	UTSW	3	33814519	missense	probably damaging	1.00
R7752:Ccdc39	UTSW	3	33832617	missense	possibly damaging	0.55
R8487:Ccdc39	UTSW	3	33832659	nonsense	probably null
R8523:Ccdc39	UTSW	3	33815411	critical splice donor site	probably null
R8525:Ccdc39	UTSW	3	33814704	missense	probably benign	0.00
R8777:Ccdc39	UTSW	3	33839133	missense	probably benign
R8777-TAIL:Ccdc39	UTSW	3	33839133	missense	probably benign
R8842:Ccdc39	UTSW	3	33826463	missense	probably damaging	1.00
R8932:Ccdc39	UTSW	3	33830125	missense	probably benign	0.00
R8947:Ccdc39	UTSW	3	33815460	unclassified	probably benign
R9207:Ccdc39	UTSW	3	33832557	nonsense	probably null
R9280:Ccdc39	UTSW	3	33816004	missense	probably damaging	0.98
R9462:Ccdc39	UTSW	3	33814370	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TACCTGGTCATCCATTGGCAGTCC -3'
(R):5'- AAGAGAGCTGTGCCTCACAGACAC -3'

Sequencing Primer
(F):5'- ATTGGCAGTCCTGGCGG -3'
(R):5'- GAATTCTCAAAGGAAGTTCCGC -3'

Posted On

2013-05-29